Molecular Diagnosis of Ataxias and Spastic Paraplegias

The molecular basis of an increasing number of inherited neurological diseases has been elucidated during recent years, and molecular diagnosis of these disorders is becoming a matter of clinical practice. This progress has been particularly evident in the field of the hereditary ataxias and spastic paraplegias. The EFNS guidelines attempt to provide practical help for the clinical neurologist to make appropriate use of the possibilities of molecular testing in these two complex groups of disorders. The guidelines summarize the possibilities and limitations of molecular genetic diagnosis and discuss practical issues, such as diagnostic criteria, to inform the decision whether or not a molecular diagnostic work-up should be initiated.

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European Handbook of Neurological Management, Volume 2, Second Edition